GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 |
copy number gain |
See cases [RCV001353184] |
Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_021954.4(GJA3):c.1137dup (p.Ser380fs) |
duplication |
Cataract 14 multiple types [RCV000018500] |
Chr13:20142151..20142152 [GRCh38] Chr13:20716290..20716291 [GRCh37] Chr13:13q12.11 |
pathogenic |
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu) |
single nucleotide variant |
Cataract 14 multiple types [RCV000542799] |
Chr13:20142566 [GRCh38] Chr13:20716705 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NC_000013.10:g.(?_20716100)_(20717447_?)dup |
duplication |
Cataract 14 multiple types [RCV000529409] |
Chr13:20141961..20143308 [GRCh38] Chr13:20716100..20717447 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV000018499] |
Chr13:20143101 [GRCh38] Chr13:20717240 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV000018501] |
Chr13:20142729 [GRCh38] Chr13:20716868 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.227G>A (p.Arg76His) |
single nucleotide variant |
Cataract 14 multiple types [RCV000018502] |
Chr13:20143062 [GRCh38] Chr13:20717201 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr) |
single nucleotide variant |
Cataract 14 multiple types [RCV000043647] |
Chr13:20142726 [GRCh38] Chr13:20716865 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) |
single nucleotide variant |
Cataract 14 multiple types [RCV000043648] |
Chr13:20143284 [GRCh38] Chr13:20717423 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) |
single nucleotide variant |
Cataract 14 multiple types [RCV000043649] |
Chr13:20142726 [GRCh38] Chr13:20716865 [GRCh37] Chr13:13q12.11 |
pathogenic|uncertain significance |
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) |
single nucleotide variant |
Cataract 14 multiple types [RCV000043650]|GJA3-related disorder [RCV004755757] |
Chr13:20142673 [GRCh38] Chr13:20716812 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic|uncertain significance |
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV000043651] |
Chr13:20142862 [GRCh38] Chr13:20717001 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|See cases [RCV000051347] |
Chr13:19837195..22574567 [GRCh38] Chr13:20411335..23148706 [GRCh37] Chr13:19309335..22046706 [NCBI36] Chr13:13q12.11 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1 |
copy number loss |
See cases [RCV000051348] |
Chr13:20026650..21967789 [GRCh38] Chr13:20600790..22541928 [GRCh37] Chr13:19498790..21439928 [NCBI36] Chr13:13q12.11 |
pathogenic |
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] |
Chr13:19837395..24884509 [GRCh38] Chr13:20411535..25458647 [GRCh37] Chr13:19309535..24356647 [NCBI36] Chr13:13q12.11-12.12 |
pathogenic |
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 |
copy number gain |
See cases [RCV000053729] |
Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000053731] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|See cases [RCV000053733] |
Chr13:19837395..22904755 [GRCh38] Chr13:20411535..23478894 [GRCh37] Chr13:19309535..22376894 [NCBI36] Chr13:13q12.11-12.12 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 |
copy number gain |
See cases [RCV000053719] |
Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 |
copy number gain |
See cases [RCV000053721] |
Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 |
copy number gain |
See cases [RCV000053723] |
Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 |
copy number gain |
See cases [RCV000053726] |
Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV001253147] |
Chr13:20143079 [GRCh38] Chr13:20717218 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 |
copy number gain |
See cases [RCV000134104] |
Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3 |
copy number gain |
See cases [RCV000135381] |
Chr13:19857140..20222070 [GRCh38] Chr13:20431280..20796209 [GRCh37] Chr13:19329280..19694209 [NCBI36] Chr13:13q12.11 |
uncertain significance |
GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1 |
copy number loss |
See cases [RCV000134754] |
Chr13:19885283..22014498 [GRCh38] Chr13:20459423..22588637 [GRCh37] Chr13:19357423..21486637 [NCBI36] Chr13:13q12.11 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 |
copy number loss |
See cases [RCV000135610] |
Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1 |
copy number loss |
See cases [RCV000137093] |
Chr13:19837395..21967789 [GRCh38] Chr13:20411535..22541928 [GRCh37] Chr13:19309535..21439928 [NCBI36] Chr13:13q12.11 |
uncertain significance |
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 |
copy number gain |
See cases [RCV000137892] |
Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 |
copy number gain |
See cases [RCV000139078] |
Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 |
copy number gain |
See cases [RCV000140004] |
Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 |
copy number gain |
See cases [RCV000141867] |
Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2 |
pathogenic |
GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3 |
copy number gain |
See cases [RCV000142006] |
Chr13:18862146..22489174 [GRCh38] Chr13:19436286..23063313 [GRCh37] Chr13:18334286..21961313 [NCBI36] Chr13:13q11-12.11 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 |
copy number gain |
See cases [RCV000142924] |
Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 |
copy number loss |
See cases [RCV000143197] |
Chr13:19671934..24985872 [GRCh38] Chr13:20246074..25560010 [GRCh37] Chr13:19144074..24458010 [NCBI36] Chr13:13q12.11-12.13 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 |
copy number gain |
See cases [RCV000143462] |
Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000148126] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 |
copy number gain |
See cases [RCV000240150] |
Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV000546601]|Developmental cataract [RCV000203321] |
Chr13:20143113 [GRCh38] Chr13:20717252 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.7G>C (p.Asp3His) |
single nucleotide variant |
Cataract 14 multiple types [RCV002225096]|Developmental cataract [RCV000203361] |
Chr13:20143282 [GRCh38] Chr13:20717421 [GRCh37] Chr13:13q12.11 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_021954.4(GJA3):c.260C>T (p.Thr87Met) |
single nucleotide variant |
Cataract 14 multiple types [RCV004589871]|Developmental cataract [RCV000203373] |
Chr13:20143029 [GRCh38] Chr13:20717168 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.895C>A (p.Leu299Met) |
single nucleotide variant |
Cataract 14 multiple types [RCV000317535]|not provided [RCV000836676]|not specified [RCV000253661] |
Chr13:20142394 [GRCh38] Chr13:20716533 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.1017G>A (p.Ala339=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000320501]|not provided [RCV000836250]|not specified [RCV000244960] |
Chr13:20142272 [GRCh38] Chr13:20716411 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.543C>T (p.Cys181=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000530487]|not provided [RCV001668579]|not specified [RCV000250319] |
Chr13:20142746 [GRCh38] Chr13:20716885 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*2870C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000301885] |
Chr13:20139111 [GRCh38] Chr13:20713250 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.231C>T (p.Phe77=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000303232]|GJA3-related disorder [RCV004755867] |
Chr13:20143058 [GRCh38] Chr13:20717197 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.-60G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000303997] |
Chr13:20160932 [GRCh38] Chr13:20735071 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV000267109] |
Chr13:20142340 [GRCh38] Chr13:20716479 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1257G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000303896]|not provided [RCV004707070] |
Chr13:20140724 [GRCh38] Chr13:20714863 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln) |
single nucleotide variant |
Cataract 14 multiple types [RCV000558856]|not provided [RCV001573126] |
Chr13:20142891 [GRCh38] Chr13:20717030 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*509A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000287291]|not provided [RCV004708323] |
Chr13:20141472 [GRCh38] Chr13:20715611 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln) |
single nucleotide variant |
Cataract 14 multiple types [RCV000287954] |
Chr13:20142849 [GRCh38] Chr13:20716988 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*744A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000270636] |
Chr13:20141237 [GRCh38] Chr13:20715376 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*618G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000271712]|not provided [RCV004708322] |
Chr13:20141363 [GRCh38] Chr13:20715502 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*3373del |
deletion |
Zonular Pulverulent Cataract [RCV000289816] |
Chr13:20138608 [GRCh38] Chr13:20712747 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.720G>A (p.Pro240=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000292821] |
Chr13:20142569 [GRCh38] Chr13:20716708 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2602T>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000357028]|not provided [RCV004707067] |
Chr13:20139379 [GRCh38] Chr13:20713518 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*243G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000405527]|not provided [RCV001672484] |
Chr13:20141738 [GRCh38] Chr13:20715877 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*904G>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000274760] |
Chr13:20141077 [GRCh38] Chr13:20715216 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*2416A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000277333] |
Chr13:20139565 [GRCh38] Chr13:20713704 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*2593A>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000262170]|not provided [RCV004708319] |
Chr13:20139388 [GRCh38] Chr13:20713527 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*3609G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000295754] |
Chr13:20138372 [GRCh38] Chr13:20712511 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2831A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000261120]|not provided [RCV004708318] |
Chr13:20139150 [GRCh38] Chr13:20713289 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*1351C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000390701] |
Chr13:20140630 [GRCh38] Chr13:20714769 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*358T>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000279178] |
Chr13:20141623 [GRCh38] Chr13:20715762 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*581A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000322021] |
Chr13:20141400 [GRCh38] Chr13:20715539 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*491T>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000323577] |
Chr13:20141490 [GRCh38] Chr13:20715629 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.1233C>T (p.Leu411=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000394570] |
Chr13:20142056 [GRCh38] Chr13:20716195 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV000282241] |
Chr13:20142427 [GRCh38] Chr13:20716566 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1997G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000347413]|not provided [RCV004707069] |
Chr13:20139984 [GRCh38] Chr13:20714123 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*691G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000325623] |
Chr13:20141290 [GRCh38] Chr13:20715429 [GRCh37] Chr13:13q12.11 |
likely benign|uncertain significance |
NM_021954.4(GJA3):c.*186TG[1] |
microsatellite |
Zonular Pulverulent Cataract [RCV000349281]|not provided [RCV001618545] |
Chr13:20141792..20141793 [GRCh38] Chr13:20715931..20715932 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) |
single nucleotide variant |
Cataract 14 multiple types [RCV000864890]|not provided [RCV003884461] |
Chr13:20142178 [GRCh38] Chr13:20716317 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*2469T>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000331369]|not provided [RCV004708320] |
Chr13:20139512 [GRCh38] Chr13:20713651 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*3166C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000403413]|not provided [RCV004708316] |
Chr13:20138815 [GRCh38] Chr13:20712954 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.375A>G (p.Pro125=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000872841]|not provided [RCV002225584] |
Chr13:20142914 [GRCh38] Chr13:20717053 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*2311A>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000332494] |
Chr13:20139670 [GRCh38] Chr13:20713809 [GRCh37] Chr13:13q12.11 |
likely benign|uncertain significance |
NM_021954.4(GJA3):c.*1083T>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000355487]|not provided [RCV004707071] |
Chr13:20140898 [GRCh38] Chr13:20715037 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV000265377] |
Chr13:20142207 [GRCh38] Chr13:20716346 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2231A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000382347]|not provided [RCV004707068] |
Chr13:20139750 [GRCh38] Chr13:20713889 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*47A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000313370]|not provided [RCV002285309] |
Chr13:20141934 [GRCh38] Chr13:20716073 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*1239C>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000335497] |
Chr13:20140742 [GRCh38] Chr13:20714881 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.84G>A (p.Val28=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000358000]|GJA3-related disorder [RCV003920300] |
Chr13:20143205 [GRCh38] Chr13:20717344 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*2864T>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000359061]|not provided [RCV004708317] |
Chr13:20139117 [GRCh38] Chr13:20713256 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.*647G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000384827] |
Chr13:20141334 [GRCh38] Chr13:20715473 [GRCh37] Chr13:13q12.11 |
likely benign|uncertain significance |
NM_021954.4(GJA3):c.*319G>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000338663]|not provided [RCV001711920] |
Chr13:20141662 [GRCh38] Chr13:20715801 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV000810800] |
Chr13:20142276 [GRCh38] Chr13:20716415 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2426C>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000385799]|not provided [RCV004708321] |
Chr13:20139555 [GRCh38] Chr13:20713694 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.780G>A (p.Arg260=) |
single nucleotide variant |
Zonular Pulverulent Cataract [RCV000387037] |
Chr13:20142509 [GRCh38] Chr13:20716648 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1449C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000339090] |
Chr13:20140532 [GRCh38] Chr13:20714671 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV000363276]|not provided [RCV004707072] |
Chr13:20142055 [GRCh38] Chr13:20716194 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.852C>G (p.Ala284=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000318629] |
Chr13:20142437 [GRCh38] Chr13:20716576 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1083A>C (p.Pro361=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000364587]|not provided [RCV001559523] |
Chr13:20142206 [GRCh38] Chr13:20716345 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
NM_021954.4(GJA3):c.-41G>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000399035] |
Chr13:20160913 [GRCh38] Chr13:20735052 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*846G>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000315301] |
Chr13:20141135 [GRCh38] Chr13:20715274 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*3182T>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000347292] |
Chr13:20138799 [GRCh38] Chr13:20712938 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1841C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000383348] |
Chr13:20140140 [GRCh38] Chr13:20714279 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*3393del |
deletion |
Zonular Pulverulent Cataract [RCV000348302] |
Chr13:20138588 [GRCh38] Chr13:20712727 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*198T>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000294365] |
Chr13:20141783 [GRCh38] Chr13:20715922 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*101G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000405223] |
Chr13:20141880 [GRCh38] Chr13:20716019 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1565A>G |
single nucleotide variant |
Zonular Pulverulent Cataract [RCV000284345] |
Chr13:20140416 [GRCh38] Chr13:20714555 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*3389G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000386478] |
Chr13:20138592 [GRCh38] Chr13:20712731 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*3108C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000307708] |
Chr13:20138873 [GRCh38] Chr13:20713012 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly) |
single nucleotide variant |
Cataract 14 multiple types [RCV000351043] |
Chr13:20142744 [GRCh38] Chr13:20716883 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*846G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000369999] |
Chr13:20141135 [GRCh38] Chr13:20715274 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2829A>T |
single nucleotide variant |
Cataract 14 multiple types [RCV000297538] |
Chr13:20139152 [GRCh38] Chr13:20713291 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.885G>C (p.Ala295=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000372141] |
Chr13:20142404 [GRCh38] Chr13:20716543 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2079A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000287725] |
Chr13:20139902 [GRCh38] Chr13:20714041 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*420_*434delinsATAGA |
indel |
Zonular Pulverulent Cataract [RCV000373711] |
Chr13:20141547..20141561 [GRCh38] Chr13:20715686..20715700 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.-179C>T |
single nucleotide variant |
Zonular Pulverulent Cataract [RCV000283434] |
Chr13:20161051 [GRCh38] Chr13:20735190 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.*1176A>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000300528] |
Chr13:20140805 [GRCh38] Chr13:20714944 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*3099C>A |
single nucleotide variant |
Cataract 14 multiple types [RCV000341500] |
Chr13:20138882 [GRCh38] Chr13:20713021 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*553C>T |
single nucleotide variant |
Zonular Pulverulent Cataract [RCV000376663] |
Chr13:20141428 [GRCh38] Chr13:20715567 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1232T>C |
single nucleotide variant |
Cataract 14 multiple types [RCV000395331] |
Chr13:20140749 [GRCh38] Chr13:20714888 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2923A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV000396880] |
Chr13:20139058 [GRCh38] Chr13:20713197 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.771C>A (p.Pro257=) |
single nucleotide variant |
Cataract 14 multiple types [RCV000559920]|GJA3-related disorder [RCV003915577] |
Chr13:20142518 [GRCh38] Chr13:20716657 [GRCh37] Chr13:13q12.11 |
benign|likely benign |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) |
copy number gain |
See cases [RCV000449142] |
Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20523271-21972234)x1 |
copy number loss |
See cases [RCV000447580] |
Chr13:20523271..21972234 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
See cases [RCV000445886] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) |
copy number gain |
See cases [RCV000510405] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20321760-21255354)x3 |
copy number gain |
See cases [RCV000511806] |
Chr13:20321760..21255354 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) |
single nucleotide variant |
Cataract 14 multiple types [RCV004591098]|Congenital cataracts-facial dysmorphism-neuropathy syndrome [RCV002272192]|Developmental cataract [RCV000490765] |
Chr13:20143233 [GRCh38] Chr13:20717372 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln) |
single nucleotide variant |
Cataract 14 multiple types [RCV004591099]|Developmental cataract [RCV000490774] |
Chr13:20142823 [GRCh38] Chr13:20716962 [GRCh37] Chr13:13q12.11 |
pathogenic|uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 |
copy number gain |
See cases [RCV000511880] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_021954.4(GJA3):c.19C>G (p.Leu7Val) |
single nucleotide variant |
Cataract 14 multiple types [RCV001296617] |
Chr13:20143270 [GRCh38] Chr13:20717409 [GRCh37] Chr13:13q12.11 |
likely benign|uncertain significance |
NM_021954.4(GJA3):c.82G>A (p.Val28Met) |
single nucleotide variant |
Cataract 14 multiple types [RCV000536966] |
Chr13:20143207 [GRCh38] Chr13:20717346 [GRCh37] Chr13:13q12.11 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) |
single nucleotide variant |
Cataract 14 multiple types [RCV000644861] |
Chr13:20142846 [GRCh38] Chr13:20716985 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1 |
copy number loss |
not provided [RCV000683544] |
Chr13:20605484..21759494 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 |
copy number loss |
not provided [RCV000683564] |
Chr13:20008480..25534121 [GRCh37] Chr13:13q12.11-12.13 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20225257-20776711)x3 |
copy number gain |
not provided [RCV000683530] |
Chr13:20225257..20776711 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 |
copy number gain |
not provided [RCV000683572] |
Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20684560-21089219)x3 |
copy number gain |
not provided [RCV000683524] |
Chr13:20684560..21089219 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:20602613-20868369)x3 |
copy number gain |
not provided [RCV000683507] |
Chr13:20602613..20868369 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr) |
single nucleotide variant |
Cataract 14 multiple types [RCV000688440] |
Chr13:20143150 [GRCh38] Chr13:20717289 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 |
copy number gain |
not provided [RCV000738115] |
Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 |
copy number gain |
not provided [RCV000750643] |
Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_021954.4(GJA3):c.*532A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001114944] |
Chr13:20141449 [GRCh38] Chr13:20715588 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.672C>T (p.His224=) |
single nucleotide variant |
Cataract 14 multiple types [RCV002545991] |
Chr13:20142617 [GRCh38] Chr13:20716756 [GRCh37] Chr13:13q12.11 |
likely benign |
GRCh37/hg19 13q12.11(chr13:19540031-22849981) |
copy number loss |
not provided [RCV000767820] |
Chr13:19540031..22849981 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala) |
single nucleotide variant |
Cataract 14 multiple types [RCV001514798]|GJA3-related disorder [RCV003936225]|Inborn genetic diseases [RCV002549575] |
Chr13:20142229 [GRCh38] Chr13:20716368 [GRCh37] Chr13:13q12.11 |
benign|likely benign|uncertain significance |
NM_021954.4(GJA3):c.715G>C (p.Gly239Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003248948] |
Chr13:20142574 [GRCh38] Chr13:20716713 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.246C>G (p.Ile82Met) |
single nucleotide variant |
Cataract 14 multiple types [RCV000821592] |
Chr13:20143043 [GRCh38] Chr13:20717182 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NC_000013.10:g.(?_20716100)_(21398980_?)dup |
duplication |
Autosomal recessive nonsyndromic hearing loss 1A [RCV000813338] |
Chr13:20141961..20824841 [GRCh38] Chr13:20716100..21398980 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:20705241-21089219)x3 |
copy number gain |
not provided [RCV000847389] |
Chr13:20705241..21089219 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2340A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001114838] |
Chr13:20139641 [GRCh38] Chr13:20713780 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2086G>T |
single nucleotide variant |
Cataract 14 multiple types [RCV001114841] |
Chr13:20139895 [GRCh38] Chr13:20714034 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.130G>A (p.Val44Met) |
single nucleotide variant |
Cataract 14 multiple types [RCV000792076] |
Chr13:20143159 [GRCh38] Chr13:20717298 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.522G>A (p.Glu174=) |
single nucleotide variant |
Cataract 14 multiple types [RCV001115051] |
Chr13:20142767 [GRCh38] Chr13:20716906 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV000810510] |
Chr13:20142072 [GRCh38] Chr13:20716211 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NC_000013.11:g.(?_20141961)_(20824841_?)del |
deletion |
Cataract 14 multiple types [RCV001031192] |
Chr13:20716100..21398980 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1 |
copy number loss |
not provided [RCV000847185] |
Chr13:20562171..22993375 [GRCh37] Chr13:13q12.11 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV000849129] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-12.11(chr13:19436286-20886867)x3 |
copy number gain |
not provided [RCV001006543] |
Chr13:19436286..20886867 [GRCh37] Chr13:13q11-12.11 |
uncertain significance |
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1 |
copy number loss |
not provided [RCV001006544] |
Chr13:19436286..24970361 [GRCh37] Chr13:13q11-12.12 |
pathogenic |
GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1 |
copy number loss |
not provided [RCV001006546] |
Chr13:20668070..23029230 [GRCh37] Chr13:13q12.11 |
pathogenic |
NM_021954.4(GJA3):c.*2695C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV001113443] |
Chr13:20139286 [GRCh38] Chr13:20713425 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1088C>T (p.Ala363Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004030187]|not provided [RCV000995029] |
Chr13:20142201 [GRCh38] Chr13:20716340 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 |
copy number gain |
not provided [RCV000847640] |
Chr13:20069228..27474401 [GRCh37] Chr13:13q12.11-12.13 |
pathogenic |
GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1 |
copy number loss |
not provided [RCV000846015] |
Chr13:19436286..23274540 [GRCh37] Chr13:13q11-12.11 |
pathogenic |
NM_021954.4(GJA3):c.176C>A (p.Pro59Gln) |
single nucleotide variant |
not provided [RCV003312257] |
Chr13:20143113 [GRCh38] Chr13:20717252 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.*1365G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV001111536] |
Chr13:20140616 [GRCh38] Chr13:20714755 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp) |
single nucleotide variant |
Cataract 14 multiple types [RCV001111633] |
Chr13:20142153 [GRCh38] Chr13:20716292 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1089G>A (p.Ala363=) |
single nucleotide variant |
Cataract 14 multiple types [RCV001111634] |
Chr13:20142200 [GRCh38] Chr13:20716339 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1016C>T (p.Ala339Val) |
single nucleotide variant |
not provided [RCV001092708] |
Chr13:20142273 [GRCh38] Chr13:20716412 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.383A>T (p.Asp128Val) |
single nucleotide variant |
Cataract 14 multiple types [RCV001109412] |
Chr13:20142906 [GRCh38] Chr13:20717045 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1086_1087insA (p.Ala363fs) |
insertion |
not provided [RCV000919890] |
Chr13:20142202..20142203 [GRCh38] Chr13:20716341..20716342 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.-98G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV001111734] |
Chr13:20160970 [GRCh38] Chr13:20735109 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2107T>A |
single nucleotide variant |
Cataract 14 multiple types [RCV001114839] |
Chr13:20139874 [GRCh38] Chr13:20714013 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2093A>C |
single nucleotide variant |
Cataract 14 multiple types [RCV001114840] |
Chr13:20139888 [GRCh38] Chr13:20714027 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*740G>C |
single nucleotide variant |
Cataract 14 multiple types [RCV001113529] |
Chr13:20141241 [GRCh38] Chr13:20715380 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp) |
single nucleotide variant |
Cataract 14 multiple types [RCV001065379] |
Chr13:20142850 [GRCh38] Chr13:20716989 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3 |
copy number gain |
not provided [RCV002473574] |
Chr13:19436287..22405375 [GRCh37] Chr13:13q11-12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*3210A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001111439] |
Chr13:20138771 [GRCh38] Chr13:20712910 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2931A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001111440] |
Chr13:20139050 [GRCh38] Chr13:20713189 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1535C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV001111534] |
Chr13:20140446 [GRCh38] Chr13:20714585 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1495G>C |
single nucleotide variant |
Cataract 14 multiple types [RCV001111535] |
Chr13:20140486 [GRCh38] Chr13:20714625 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:20722953-20855764)x3 |
copy number gain |
not provided [RCV001006547] |
Chr13:20722953..20855764 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1965C>T |
single nucleotide variant |
Cataract 14 multiple types [RCV001109199] |
Chr13:20140016 [GRCh38] Chr13:20714155 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1931G>C |
single nucleotide variant |
Cataract 14 multiple types [RCV001109202] |
Chr13:20140050 [GRCh38] Chr13:20714189 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala) |
single nucleotide variant |
Cataract 14 multiple types [RCV001111631]|Inborn genetic diseases [RCV004978021] |
Chr13:20142049 [GRCh38] Chr13:20716188 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn) |
single nucleotide variant |
Cataract 14 multiple types [RCV001111632] |
Chr13:20142120 [GRCh38] Chr13:20716259 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV001109307] |
Chr13:20142013 [GRCh38] Chr13:20716152 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV001109411]|Inborn genetic diseases [RCV003259096]|not provided [RCV001759878] |
Chr13:20142894 [GRCh38] Chr13:20717033 [GRCh37] Chr13:13q12.11 |
benign|uncertain significance |
NM_021954.4(GJA3):c.*223T>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001109305] |
Chr13:20141758 [GRCh38] Chr13:20715897 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV001109308] |
Chr13:20142033 [GRCh38] Chr13:20716172 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.-17-299G>A |
single nucleotide variant |
not provided [RCV001652406] |
Chr13:20143604 [GRCh38] Chr13:20717743 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.1065C>G (p.Val355=) |
single nucleotide variant |
Cataract 14 multiple types [RCV001112097] |
Chr13:20142224 [GRCh38] Chr13:20716363 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln) |
single nucleotide variant |
Cataract 14 multiple types [RCV001207762] |
Chr13:20142510 [GRCh38] Chr13:20716649 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*2363A>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001114837] |
Chr13:20139618 [GRCh38] Chr13:20713757 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*3509C>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001109104] |
Chr13:20138472 [GRCh38] Chr13:20712611 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1957G>C |
single nucleotide variant |
Cataract 14 multiple types [RCV001109200] |
Chr13:20140024 [GRCh38] Chr13:20714163 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.*1941C>G |
single nucleotide variant |
Cataract 14 multiple types [RCV001109201] |
Chr13:20140040 [GRCh38] Chr13:20714179 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*1760G>A |
single nucleotide variant |
Cataract 14 multiple types [RCV001109203] |
Chr13:20140221 [GRCh38] Chr13:20714360 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*201G>C |
single nucleotide variant |
Cataract 14 multiple types [RCV001109306] |
Chr13:20141780 [GRCh38] Chr13:20715919 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) |
single nucleotide variant |
Cataract 14 multiple types [RCV001109413] |
Chr13:20142955 [GRCh38] Chr13:20717094 [GRCh37] Chr13:13q12.11 |
benign|conflicting interpretations of pathogenicity |
NM_021954.4(GJA3):c.261G>A (p.Thr87=) |
single nucleotide variant |
Cataract 14 multiple types [RCV001109414] |
Chr13:20143028 [GRCh38] Chr13:20717167 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.78G>A (p.Leu26=) |
single nucleotide variant |
Cataract 14 multiple types [RCV001109415] |
Chr13:20143211 [GRCh38] Chr13:20717350 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.902C>T (p.Ala301Val) |
single nucleotide variant |
Cataract 14 multiple types [RCV001112098] |
Chr13:20142387 [GRCh38] Chr13:20716526 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:20485792-20715534)x3 |
copy number gain |
not provided [RCV001260186] |
Chr13:20485792..20715534 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13p13-q34(chr13:1-115169878) |
copy number gain |
Complete trisomy 13 syndrome [RCV002280659] |
Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV001371283] |
Chr13:20143245 [GRCh38] Chr13:20717384 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) |
single nucleotide variant |
Cataract 14 multiple types [RCV001542775]|not provided [RCV001797193] |
Chr13:20143105 [GRCh38] Chr13:20717244 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro) |
single nucleotide variant |
Cataract 14 multiple types [RCV001542776] |
Chr13:20143141 [GRCh38] Chr13:20717280 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.1086C>A (p.Leu362=) |
single nucleotide variant |
Cataract 14 multiple types [RCV001513958]|GJA3-related disorder [RCV004756261]|not provided [RCV004707638] |
Chr13:20142203 [GRCh38] Chr13:20716342 [GRCh37] Chr13:13q12.11 |
benign |
NM_021954.4(GJA3):c.1079C>G (p.Pro360Arg) |
single nucleotide variant |
not provided [RCV001726894] |
Chr13:20142210 [GRCh38] Chr13:20716349 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys) |
single nucleotide variant |
Cataract 14 multiple types [RCV004590363]|Developmental cataract [RCV001775017] |
Chr13:20143246 [GRCh38] Chr13:20717385 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1082_1088del (p.Pro361fs) |
deletion |
not provided [RCV001726893] |
Chr13:20142201..20142207 [GRCh38] Chr13:20716340..20716346 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 |
copy number gain |
See cases [RCV001780076] |
Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
NM_021954.4(GJA3):c.161G>A (p.Cys54Tyr) |
single nucleotide variant |
not provided [RCV001765258] |
Chr13:20143128 [GRCh38] Chr13:20717267 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1070G>A (p.Ser357Asn) |
single nucleotide variant |
not provided [RCV001757162] |
Chr13:20142219 [GRCh38] Chr13:20716358 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.151G>C (p.Asp51His) |
single nucleotide variant |
Cataract 14 multiple types [RCV001971221]|not provided [RCV003312032] |
Chr13:20143138 [GRCh38] Chr13:20717277 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV001837018] |
Chr13:20142726 [GRCh38] Chr13:20716865 [GRCh37] Chr13:13q12.11 |
likely pathogenic|uncertain significance |
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys) |
single nucleotide variant |
Cataract 14 multiple types [RCV001988373]|not provided [RCV003232506] |
Chr13:20143063 [GRCh38] Chr13:20717202 [GRCh37] Chr13:13q12.11 |
likely pathogenic|uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-114981726) |
copy number gain |
not specified [RCV002053035] |
Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV002006546] |
Chr13:20142897 [GRCh38] Chr13:20717036 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-115107733) |
copy number gain |
not specified [RCV002053036] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV001834436] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) |
single nucleotide variant |
Cataract 14 multiple types [RCV001883260]|GJA3-related disorder [RCV004731191] |
Chr13:20142694 [GRCh38] Chr13:20716833 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV002049782] |
Chr13:20143111 [GRCh38] Chr13:20717250 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.655A>G (p.Met219Val) |
single nucleotide variant |
Cataract 14 multiple types [RCV001925926]|not provided [RCV004693951] |
Chr13:20142634 [GRCh38] Chr13:20716773 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.98G>T (p.Arg33Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV002071031] |
Chr13:20143191 [GRCh38] Chr13:20717330 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV002227584] |
Chr13:20142730 [GRCh38] Chr13:20716869 [GRCh37] Chr13:13q12.11 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_021954.4(GJA3):c.1101_1108del (p.Glu367fs) |
deletion |
Cataract 14 multiple types [RCV004796942] |
Chr13:20142181..20142188 [GRCh38] Chr13:20716320..20716327 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 |
copy number gain |
not provided [RCV002291540] |
Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_021954.4(GJA3):c.-17-245_-17-235del |
deletion |
not provided [RCV002286106] |
Chr13:20143540..20143550 [GRCh38] Chr13:20717679..20717689 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.-17-234_-17-233insAGGAA |
insertion |
not provided [RCV002285885] |
Chr13:20143538..20143539 [GRCh38] Chr13:20717677..20717678 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys) |
single nucleotide variant |
Cataract 14 multiple types [RCV002305352] |
Chr13:20143153 [GRCh38] Chr13:20717292 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.196T>C (p.Tyr66His) |
single nucleotide variant |
Cataract 14 multiple types [RCV002947206] |
Chr13:20143093 [GRCh38] Chr13:20717232 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr) |
single nucleotide variant |
Cataract 14 multiple types [RCV003076454] |
Chr13:20142241 [GRCh38] Chr13:20716380 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1 |
copy number loss |
not provided [RCV002475689] |
Chr13:19436287..22089005 [GRCh37] Chr13:13q11-12.11 |
pathogenic |
NM_021954.4(GJA3):c.1303A>G (p.Ile435Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002905193] |
Chr13:20141986 [GRCh38] Chr13:20716125 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1203G>A (p.Ala401=) |
single nucleotide variant |
Cataract 14 multiple types [RCV002882100] |
Chr13:20142086 [GRCh38] Chr13:20716225 [GRCh37] Chr13:13q12.11 |
likely benign|uncertain significance |
NM_021954.4(GJA3):c.539G>A (p.Arg180His) |
single nucleotide variant |
Inborn genetic diseases [RCV002822527] |
Chr13:20142750 [GRCh38] Chr13:20716889 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.565A>C (p.Thr189Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002799473] |
Chr13:20142724 [GRCh38] Chr13:20716863 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.673C>G (p.Leu225Val) |
single nucleotide variant |
Cataract 14 multiple types [RCV002926920] |
Chr13:20142616 [GRCh38] Chr13:20716755 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV002958596]|GJA3-related disorder [RCV003409988]|Inborn genetic diseases [RCV004068065] |
Chr13:20142384 [GRCh38] Chr13:20716523 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.487T>A (p.Phe163Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002767013] |
Chr13:20142802 [GRCh38] Chr13:20716941 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.245T>A (p.Ile82Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002788669] |
Chr13:20143044 [GRCh38] Chr13:20717183 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV002893878] |
Chr13:20142680 [GRCh38] Chr13:20716819 [GRCh37] Chr13:13q12.11 |
pathogenic |
NM_021954.4(GJA3):c.919G>A (p.Gly307Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003219481] |
Chr13:20142370 [GRCh38] Chr13:20716509 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1061C>T (p.Pro354Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003209926] |
Chr13:20142228 [GRCh38] Chr13:20716367 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1202C>T (p.Ala401Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003198229] |
Chr13:20142087 [GRCh38] Chr13:20716226 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1207C>G (p.Gln403Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003205265] |
Chr13:20142082 [GRCh38] Chr13:20716221 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.721G>A (p.Asp241Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003367663] |
Chr13:20142568 [GRCh38] Chr13:20716707 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.848G>A (p.Arg283His) |
single nucleotide variant |
Inborn genetic diseases [RCV003367301] |
Chr13:20142441 [GRCh38] Chr13:20716580 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1192G>A (p.Val398Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003376179] |
Chr13:20142097 [GRCh38] Chr13:20716236 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:20733790-20882001)x3 |
copy number gain |
not provided [RCV003484888] |
Chr13:20733790..20882001 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.864C>G (p.Pro288=) |
single nucleotide variant |
not provided [RCV003398326] |
Chr13:20142425 [GRCh38] Chr13:20716564 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.20T>C (p.Leu7Pro) |
single nucleotide variant |
not provided [RCV003442449] |
Chr13:20143269 [GRCh38] Chr13:20717408 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.868del (p.Ala290fs) |
deletion |
Cataract 14 multiple types [RCV003518333] |
Chr13:20142421 [GRCh38] Chr13:20716560 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn) |
single nucleotide variant |
Cataract 14 multiple types [RCV003518472] |
Chr13:20142582 [GRCh38] Chr13:20716721 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys) |
single nucleotide variant |
Cataract 14 multiple types [RCV003517910] |
Chr13:20143100 [GRCh38] Chr13:20717239 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter) |
single nucleotide variant |
Cataract 14 multiple types [RCV003517812] |
Chr13:20142842 [GRCh38] Chr13:20716981 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV003516807] |
Chr13:20142671 [GRCh38] Chr13:20716810 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV003631309] |
Chr13:20143079 [GRCh38] Chr13:20717218 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala) |
single nucleotide variant |
Cataract 14 multiple types [RCV003632457] |
Chr13:20142523 [GRCh38] Chr13:20716662 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1107C>T (p.Gly369=) |
single nucleotide variant |
Cataract 14 multiple types [RCV003632847] |
Chr13:20142182 [GRCh38] Chr13:20716321 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr) |
single nucleotide variant |
Cataract 14 multiple types [RCV003518792] |
Chr13:20143282 [GRCh38] Chr13:20717421 [GRCh37] Chr13:13q12.11 |
pathogenic|likely pathogenic |
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter) |
single nucleotide variant |
Cataract 14 multiple types [RCV003811989] |
Chr13:20142746 [GRCh38] Chr13:20716885 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.30_31del (p.Leu11fs) |
microsatellite |
Cataract 14 multiple types [RCV003631604] |
Chr13:20143258..20143259 [GRCh38] Chr13:20717397..20717398 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.519C>T (p.Phe173=) |
single nucleotide variant |
Cataract 14 multiple types [RCV003815174] |
Chr13:20142770 [GRCh38] Chr13:20716909 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.175C>G (p.Pro59Ala) |
single nucleotide variant |
Cataract 14 multiple types [RCV003990000] |
Chr13:20143114 [GRCh38] Chr13:20717253 [GRCh37] Chr13:13q12.11 |
pathogenic |
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 |
copy number gain |
not provided [RCV004442747] |
Chr13:19436287..36278224 [GRCh37] Chr13:13q11-13.3 |
uncertain significance |
GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3 |
copy number gain |
not provided [RCV004442823] |
Chr13:19748336..20797299 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.376C>G (p.Pro126Ala) |
single nucleotide variant |
GJA3-related disorder [RCV003936858] |
Chr13:20142913 [GRCh38] Chr13:20717052 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.297C>G (p.Ile99Met) |
single nucleotide variant |
GJA3-related disorder [RCV003893942] |
Chr13:20142992 [GRCh38] Chr13:20717131 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.*5C>T |
single nucleotide variant |
GJA3-related disorder [RCV003949269] |
Chr13:20141976 [GRCh38] Chr13:20716115 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.323_326del (p.Glu108fs) |
microsatellite |
GJA3-related disorder [RCV003954918] |
Chr13:20142963..20142966 [GRCh38] Chr13:20717102..20717105 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.463T>G (p.Phe155Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004390772] |
Chr13:20142826 [GRCh38] Chr13:20716965 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.68A>G (p.Lys23Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004390773] |
Chr13:20143221 [GRCh38] Chr13:20717360 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1063G>T (p.Val355Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004390769] |
Chr13:20142226 [GRCh38] Chr13:20716365 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1079C>A (p.Pro360Gln) |
single nucleotide variant |
Cataract 14 multiple types [RCV005065032]|Inborn genetic diseases [RCV004390770] |
Chr13:20142210 [GRCh38] Chr13:20716349 [GRCh37] Chr13:13q12.11 |
likely benign|uncertain significance |
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593607] |
Chr13:20143164 [GRCh38] Chr13:20717303 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593610] |
Chr13:20143147 [GRCh38] Chr13:20717286 [GRCh37] Chr13:13q12.11 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_021954.4(GJA3):c.199G>C (p.Asp67His) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593613] |
Chr13:20143090 [GRCh38] Chr13:20717229 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.32T>C (p.Leu11Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593625] |
Chr13:20143257 [GRCh38] Chr13:20717396 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.1143_1165del (p.Ser381fs) |
deletion |
Cataract 14 multiple types [RCV004593627] |
Chr13:20142124..20142146 [GRCh38] Chr13:20716263..20716285 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.1197dup (p.Thr400fs) |
duplication |
Cataract 14 multiple types [RCV004593630] |
Chr13:20142091..20142092 [GRCh38] Chr13:20716230..20716231 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.82G>T (p.Val28Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593647] |
Chr13:20143207 [GRCh38] Chr13:20717346 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.253G>A (p.Val85Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004390771] |
Chr13:20143036 [GRCh38] Chr13:20717175 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.134G>C (p.Trp45Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593608] |
Chr13:20143155 [GRCh38] Chr13:20717294 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593622] |
Chr13:20142693 [GRCh38] Chr13:20716832 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.64G>A (p.Gly22Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593641] |
Chr13:20143225 [GRCh38] Chr13:20717364 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593593] |
Chr13:20143197 [GRCh38] Chr13:20717336 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.139G>A (p.Asp47Asn) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593609] |
Chr13:20143150 [GRCh38] Chr13:20717289 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593614] |
Chr13:20143089 [GRCh38] Chr13:20717228 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593615] |
Chr13:20143063 [GRCh38] Chr13:20717202 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593617] |
Chr13:20142999 [GRCh38] Chr13:20717138 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593618] |
Chr13:20142861 [GRCh38] Chr13:20717000 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.950dup (p.His318fs) |
duplication |
Cataract 14 multiple types [RCV004593626] |
Chr13:20142338..20142339 [GRCh38] Chr13:20716477..20716478 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.1A>G (p.Met1Val) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593583] |
Chr13:20143288 [GRCh38] Chr13:20717427 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.96C>A (p.Phe32Leu) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593597] |
Chr13:20143193 [GRCh38] Chr13:20717332 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593619] |
Chr13:20142711 [GRCh38] Chr13:20716850 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1189dup (p.Ala397fs) |
duplication |
Cataract 14 multiple types [RCV004593629] |
Chr13:20142099..20142100 [GRCh38] Chr13:20716238..20716239 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NC_000013.10:g.(?_20472281)_(24052335_?)del |
deletion |
not provided [RCV004578334] |
Chr13:20472281..24052335 [GRCh37] Chr13:13q12.11-12.12 |
pathogenic |
NM_021954.4(GJA3):c.143A>G (p.Glu48Gly) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593611] |
Chr13:20143146 [GRCh38] Chr13:20717285 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593612] |
Chr13:20143126 [GRCh38] Chr13:20717265 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593616] |
Chr13:20143021 [GRCh38] Chr13:20717160 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593621] |
Chr13:20142700 [GRCh38] Chr13:20716839 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.771dup (p.Ser258fs) |
duplication |
Cataract 14 multiple types [RCV004593623] |
Chr13:20142517..20142518 [GRCh38] Chr13:20716656..20716657 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.584C>T (p.Ser195Phe) |
single nucleotide variant |
Cataract 14 multiple types [RCV004593620] |
Chr13:20142705 [GRCh38] Chr13:20716844 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp) |
duplication |
Cataract 14 multiple types [RCV004593624] |
Chr13:20142471..20142472 [GRCh38] Chr13:20716610..20716611 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1152dup (p.Ser385fs) |
duplication |
Cataract 14 multiple types [RCV004593628] |
Chr13:20142136..20142137 [GRCh38] Chr13:20716275..20716276 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NC_000013.10:g.(?_20716120)_(21219117_?)dup |
duplication |
not provided [RCV004578350] |
Chr13:20716120..21219117 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.715G>A (p.Gly239Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004627113] |
Chr13:20142574 [GRCh38] Chr13:20716713 [GRCh37] Chr13:13q12.11 |
likely benign |
NM_021954.4(GJA3):c.406C>T (p.Arg136Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004627114] |
Chr13:20142883 [GRCh38] Chr13:20717022 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.742G>T (p.Gly248Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004627115] |
Chr13:20142547 [GRCh38] Chr13:20716686 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.635G>A (p.Cys212Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004627116] |
Chr13:20142654 [GRCh38] Chr13:20716793 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1304T>C (p.Ile435Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004627112] |
Chr13:20141985 [GRCh38] Chr13:20716124 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1006C>T (p.Gln336Ter) |
single nucleotide variant |
not provided [RCV004763146] |
|
uncertain significance |
NM_021954.4(GJA3):c.562A>T (p.Asn188Tyr) |
single nucleotide variant |
GJA3-related disorder [RCV004756620] |
Chr13:20142727 [GRCh38] Chr13:20716866 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.65G>T (p.Gly22Val) |
single nucleotide variant |
GJA3-related disorder [RCV004732366] |
Chr13:20143224 [GRCh38] Chr13:20717363 [GRCh37] Chr13:13q12.11 |
uncertain significance |
GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3 |
copy number gain |
not provided [RCV004819310] |
Chr13:19436287..92292639 [GRCh37] Chr13:13q11-31.3 |
pathogenic |
NM_021954.4(GJA3):c.565A>G (p.Thr189Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004982532] |
Chr13:20142724 [GRCh38] Chr13:20716863 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.308A>C (p.Glu103Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004982535] |
Chr13:20142981 [GRCh38] Chr13:20717120 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.625G>A (p.Ala209Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004982536] |
Chr13:20142664 [GRCh38] Chr13:20716803 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1283C>T (p.Ala428Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004982533] |
Chr13:20142006 [GRCh38] Chr13:20716145 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.761C>T (p.Pro254Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004982534] |
Chr13:20142528 [GRCh38] Chr13:20716667 [GRCh37] Chr13:13q12.11 |
likely benign |
GRCh37/hg19 13q11-12.11(chr13:19436287-21274807)x3 |
copy number gain |
not provided [RCV004819583] |
Chr13:19436287..21274807 [GRCh37] Chr13:13q11-12.11 |
uncertain significance |
NM_021954.4(GJA3):c.113G>A (p.Gly38Glu) |
single nucleotide variant |
Cataract 14 multiple types [RCV005002036] |
Chr13:20143176 [GRCh38] Chr13:20717315 [GRCh37] Chr13:13q12.11 |
likely pathogenic |
NM_021954.4(GJA3):c.454A>C (p.Asn152His) |
single nucleotide variant |
Cataract 14 multiple types [RCV005085406] |
Chr13:20142835 [GRCh38] Chr13:20716974 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.9C>A (p.Asp3Glu) |
single nucleotide variant |
Cataract 14 multiple types [RCV005105811] |
Chr13:20143280 [GRCh38] Chr13:20717419 [GRCh37] Chr13:13q12.11 |
uncertain significance |
NM_021954.4(GJA3):c.1023G>A (p.Lys341=) |
single nucleotide variant |
Cataract 14 multiple types [RCV005144257] |
Chr13:20142266 [GRCh38] Chr13:20716405 [GRCh37] Chr13:13q12.11 |
likely benign |